Transversal cohort analysis with data aggregation of singleton exome sequencing significantly increases the diagnostic yield for the diagnosis of fetuses with multiple congenital abnormalities

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TitreTransversal cohort analysis with data aggregation of singleton exome sequencing significantly increases the diagnostic yield for the diagnosis of fetuses with multiple congenital abnormalities
Type de publicationJournal Article
Year of Publication2019
AuteursBruel A., Lefebvre M., Bourgon N., Duffourd Y., Assoum M., Kuentz P., Schaefer E., S. Chehadeh E, Antal M., Kremer V., Girard-Lemaire F., Mandel J., Lehalle D., Nambot S., Jean-Marcais N., Houcinat N., Moutton S., Marle N., Lambert L., Jonveaux P., Foliguet B., Mazutti J., Gaillard D., Alanio E., Poirisier C., Lebre A., Aubert-Lenoir M., Arbez-Gindre F., Odent S., Quelin C., Loget P., Fradin M., Willems M., Bigi N., Perez M., Blesson S., Francannet C., Beaufrere A., Patrier S., Guerrot A., Goldenberg A., Laurent N., Philippe C., F. Mau-Them T, Thevenon J., Faivre L., Thauvin C., Vitobello A.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1515-1516
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813